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Springer电子图书(1)
SpringerLink电子期刊(25)
Elsevier电子期刊(27)
在“
Elsevier电子期刊
”中,
命中:
27
条,耗时:小于0.01 秒
在所有数据库中总计命中:
53
条
1.
Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes
作者:
Joseph D.T. Ndika
;
Vera Lusink
;
Claudine Beaubrun
;
Warsha Kanhai
;
Cristina Martinez-Munoz
;
Cornelis Jakobs
;
Gajja
S.
Salomons
关键词:
ATP
;
adenosine triphosphate
;
bp
;
base pair
;
kb
;
kilo base pair
;
cDNA
;
DNA complementary to RNA
;
GAPDH
;
Glyceraldehyde 3-phosphate dehydrogenase
;
gDNA
;
genomic DNA
;
EGFP
;
enhanced green fluorescent protein
;
SV40
;
Simian virus 40
;
chr
;
chromosome
;
MEFs
;
mouse embryo fibroblasts
;
HEK293
;
human embryonic kidney cell line
;
3T3 Swiss
;
mouse fibroblast cell line
;
SK-N-SH
;
human neuroblastoma cell line
;
mRNA
;
messenger RNA
;
miRNA
;
microRNA
;
ORF
;
open reading frame
;
PCR
;
polymerase chain reaction
;
RTPCR
刊名:Gene
出版年:10 January, 2014
2.
Case Study for the Evaluation of Current Treatment Recommendations of Guanidinoacetate Methyltransferase Deficiency: Ineffectiveness of Sodium Benzoate
作者:
Saadet Mercimek-Mahmutoglu
;
MD
;
PhD
a
;
b
;
saadet.mahmutoglu@sickkids.ca" class="auth_mail
;
Gajja
S.
Salomons
;
PhD
c
;
Alicia Chan
;
MD
d
关键词:
GAMT deficiency
;
seizure
;
creatine therapy
;
global developmental delay
;
arginine-restricted diet
;
sodium benzoate
刊名:Pediatric Neurology
出版年:July 2014
3.
Creatine and guanidinoacetate reference values in a French population
作者:
Marie Joncquel-Chevalier Curt
;
David Cheillan
;
Gilbert Bri
;
Gajja
S.
Salomons
;
Karine Mention-Mulliez
;
Dries Dobbelaere
;
Jean-Marie Cuisset
;
Laurence Lion-Fran?ois
;
Vincent Des Portes
;
Allel Chabli
;
Vassili Valayannopoulos
;
Jean-Fran?ois Benoist
;
Jean-Marc Pinard
;
Gilles Simard
;
Olivier Douay
;
Kumaran Deiva
;
Marc Tardieu
;
Alex
;
ra Afenjar
;
Delphine H¨¦ron
;
Fran?ois Rivier
;
et al.
关键词:
Creatine
;
Guanidinoacetate
;
Creatinine
;
Laboratory values
;
Urine
;
Plasma
刊名:Molecular Genetics and Metabolism
出版年:2013
4.
Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria
作者:
Benjamin Nota
1
;
18
;
benjamin.nota@gmail.com
;
Eduard A. Struys
1
;
18
;
Ana Pop
1
;
Erwin E. Jansen
1
;
Matilde R. Fernandez Ojeda
1
;
Warsha A. Kanhai
1
;
Martijn Kranendijk
1
;
Silvy J.M. van Dooren
1
;
Marianna R. Bevova
2
;
Erik A. Sistermans
2
;
Aggie W.M. Nieuwint
2
;
Magalie Barth
3
;
Tawfeg Ben-Omran
4
;
Georg F. Hoffmann
5
;
Pascale de Lonlay
6
;
Marie T. McDonald
7
;
Alf Meberg
8
;
Ania C. Muntau
9
;
Jean-Marc Nuoffer
10
;
Rossella Parini
11
;
Marie-Hé
;
lè
;
ne Read
12
;
Axel Renneberg
13
;
René
;
Santer
14
;
Thomas Strahleck
15
;
Emile van Schaftingen
16
;
Marjo S. van der Knaap
17
;
Cornelis Jakobs
1
;
Gajja
S.
Salomons
1
;
g.
salomons
@vumc.nl
刊名:The American Journal of Human Genetics
出版年:2013
5.
Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine
作者:
Mariska Davids
;
Joseph D.T. Ndika
;
Gajja
S.
Salomons
;
Henk J. Blom
;
Tom Teerlink
关键词:
Homoarginine
;
Arginine
;
glycine amidinotransferase (AGAT)
;
Argininosuccinate synthase (ASS)
;
Cardiovascular disease
刊名:FEBS Letters
出版年:2012
6.
Phenotypic Variability in a Portuguese Family With X-Linked Creatine Transport Deficiency
作者:
Paula Garcia
;
MD
a
;
Fidjy Rodrigues
;
MSc
a
;
Carla Valongo
;
MSc
b
;
Gajja
S.
Salomons
;
MD
c
;
Luí
;
sa Diogo
;
MD
;
PhD
a
;
diogo.luisa@gmail.com
刊名:Pediatric Neurology
出版年:2012
7.
Treatment of intractable epilepsy in a female with SLC6A8 deficiency
作者:
Saadet Mercimek-Mahmutoglu
;
Mary B. Connolly
;
Kenneth J. Poskitt
;
Gabriella A. Horvath
;
Noel Lowry
;
Gajja
S.
Salomons
;
Brett Casey
;
Graham Sinclair
;
Cynthia Davis
;
Cornelis Jakobs
;
Sylvia Stockler-Ips
关键词:
Seizures
;
Mental retardation
;
Cerebral creatine deficiency
;
Urinary creatine
;
Guanidinoacetate
;
Magnetic resonance spectroscopy
刊名:Molecular Genetics and Metabolism
出版年:2010
8.
Neuropathology in Succinic Semialdehyde Dehydrogenase Deficiency
作者:
Ina Knerr
;
K. Michael Gibson
;
Geoffrey Murdoch
;
Gajja
S.
Salomons
;
Cornelis Jakobs
;
Susan Combs
;
Phillip L. Pearl
刊名:Pediatric Neurology
出版年:2010
9.
Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry
作者:
Saadet Mercimek-Mahmutoglu
;
Adolf Muehl
;
Gajja
S.
Salomons
;
Birgit Neophytou
;
Dorothea Moeslinger
;
Eduard Struys
;
Olaf A. Bodamer
;
Cornelis Jakobs
;
Sylvia Stockler-Ipsiroglu
关键词:
Cerebral creatine deficiency
;
X-linked mental retardation
;
Age dependent normal values
刊名:Molecular Genetics and Metabolism
出版年:2009
10.
Transaldolase deficiency in two new patients with a relative mild phenotype
作者:
Anna Tylki-Szymań
;
ska
;
Teresa J. Stradomska
;
Mirjam M.C. Wamelink
;
Gajja
S.
Salomons
;
Joanna Taybert
;
Joanna Pawł
;
owska
;
Cornelis Jakobs
关键词:
Transaldolase deficiency
;
Pentose phosphate pathway
;
Polyol concentrations
;
Sedoheptulose
;
Neonatal haemorrhagic diathesis
;
Liver fibrosis
刊名:Molecular Genetics and Metabolism
出版年:2009
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